Canonical Allele Identifier: CA339062613

Gene: RSRP1

Linked Data

• gnomAD v4: 1-25243590-T-A
• MyVariant Identifiers: chr1:g.25570081T>A (hg19) ; chr1:g.25243590T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243590T>A , CM000663.2:g.25243590T>A	GRCh38
NC_000001.10:g.25570081T>A , CM000663.1:g.25570081T>A	GRCh37
NC_000001.9:g.25442668T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000243189.12:c.716A>T MANE Select	ENSP00000243189.7:p.Glu239Val
ENST00000243189.11:c.716A>T	ENSP00000243189.7:p.Glu239Val
ENST00000473314.6:c.*671A>T	ENSP00000457582.1:n.*671A>T
ENST00000475766.2:n.267A>T
ENST00000498238.1:n.2444A>T
ENST00000564223.5:n.65A>T
ENST00000565733.5:c.393A>T
ENST00000566395.5:c.333A>T
ENST00000568254.5:c.*626A>T	ENSP00000457195.1:n.*626A>T
ENST00000569495.5:n.516A>T
ENST00000570063.5:n.1353A>T
NM_020317.3:c.716A>T	NP_064713.3:p.Glu239Val
XM_011541797.1:c.716A>T	XP_011540099.1:p.Glu239Val
XM_011541798.1:c.*79A>T	XP_011540100.1:n.*79A>T
XR_241200.1:n.1629A>T
XR_241201.1:n.1038A>T
XR_946709.1:n.2280A>T
XR_946710.1:n.1962A>T
XR_946711.1:n.1689A>T
XR_946712.1:n.1858A>T
XR_946713.1:n.1584A>T
NM_001321772.1:c.716A>T	NP_001308701.1:p.Glu239Val
NM_020317.4:c.716A>T	NP_064713.3:p.Glu239Val
NR_135143.1:n.2509A>T
NR_135144.1:n.1584A>T
NR_135777.1:n.2484A>T
NR_135778.1:n.1858A>T
NR_135780.1:n.1962A>T
NR_135781.1:n.1629A>T
NR_135782.1:n.1311A>T
NR_135783.1:n.1038A>T
NR_135784.1:n.2509A>T
NR_135785.1:n.1037A>T
NR_135786.1:n.2509A>T
NR_135787.1:n.2633A>T
NR_135788.1:n.2575A>T
NR_135789.1:n.3513A>T
XR_946709.2:n.2246A>T
NM_020317.5:c.716A>T MANE Select	NP_064713.3:p.Glu239Val
NR_135784.2:n.2444A>T
NR_135786.2:n.2444A>T
NM_001321772.2:c.716A>T	NP_001308701.1:p.Glu239Val
NR_135143.2:n.2444A>T
NR_135144.2:n.1519A>T
NR_135777.2:n.2484A>T
NR_135778.2:n.1793A>T
NR_135780.2:n.1897A>T
NR_135781.2:n.1564A>T
NR_135782.2:n.1246A>T
NR_135783.2:n.973A>T
NR_135785.2:n.972A>T
NR_135787.2:n.2633A>T
NR_135788.2:n.2575A>T
NR_135789.2:n.3513A>T